C1QA p.Ile175=
c.525C>T · rs149050968 · VCV789874
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 8 submitters
gnomAD v4.1
Rare
rare (popmax 0.626%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.108 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.47 | GERP -3.2 |
| Overall | ||
| CADD | 4.637 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.626%
Admixed American · 376/60,032 alleles
Filtering AF
0.574%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.554%
Overall
0.288%
4,653/1,614,254 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.626% | 160 |
| Amishnot grpmax-eligible | 0.329% | 304 |
| Remaining individualsnot grpmax-eligible | 0.328% | 305 |
| European (non-Finnish) | 0.324% | 308 |
| Ashkenazi Jewishnot grpmax-eligible | 0.267% | 375 |
| Middle Eastern | 0.132% | 758 |
| South Asian | 0.0758% | 1,320 |
| Finnishnot grpmax-eligible | 0.0671% | 1,489 |
| African / African-American | 0.0586% | 1,706 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- C1QA
- Protein
- p.Ile175=
- Coding
- c.525C>T
- MANE Select
- NM_015991
- dbSNP
- rs149050968
- Type
- single nucleotide variant
- Location
- chr1:22639194 (GRCh38)
- Gene constraint
- LOEUF 0.997 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 83.68 · 11 PDB
- Residue 175
- a disulfide bond; the c1q domain; a β-strand
Similar variants
- C1QA p.Arg27Ter Pathogenic/Likely pathogenic ★★ same type
- C1QA p.Gln208Ter Pathogenic ★★ same type
- C1QA p.Gly157Asp Likely pathogenic ★★ same type
- C1QA p.Arg150Gln Uncertain significance ★★ ⚠ same type
- C1QA p.Arg180Lys Uncertain significance ★★ ⚠ same type
- C1QA p.Arg27Gln Uncertain significance ★★ ⚠ same type
- C1QA p.Arg42Gln Uncertain significance ★★ ⚠ same type
- C1QA p.Arg44Gln Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/c1qa-p-ile175 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown